Canonical Allele Identifier: CA379804248

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612650-T-A
• MyVariant Identifiers: chr11:g.17634197T>A (hg19) ; chr11:g.17612650T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612650T>A , CM000673.2:g.17612650T>A	GRCh38
NC_000011.9:g.17634197T>A , CM000673.1:g.17634197T>A	GRCh37
NC_000011.8:g.17590773T>A	NCBI36
NG_033191.1:g.70278T>A
NG_033191.2:g.70278T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6359T>A	ENSP00000382323.2:p.Phe2120Tyr
ENST00000399397.6:c.6323T>A MANE Select	ENSP00000382329.2:p.Phe2108Tyr
ENST00000342528.2:c.3377T>A	ENSP00000341666.2:p.Phe1126Tyr
ENST00000399391.6:c.6359T>A	ENSP00000382323.2:p.Phe2120Tyr
ENST00000399397.5:c.6323T>A	ENSP00000382329.2:p.Phe2108Tyr
NM_001277269.1:c.6359T>A	NP_001264198.1:p.Phe2120Tyr
NM_001292063.1:c.6323T>A	NP_001278992.1:p.Phe2108Tyr
NM_001277269.2:c.6359T>A	NP_001264198.1:p.Phe2120Tyr
NM_001292063.2:c.6323T>A MANE Select	NP_001278992.1:p.Phe2108Tyr